nsv3125747
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:507,148
- Description:qual score = 99
- Publication(s):Exome Aggregation Consortium CNVs
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1249 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1250 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3125747 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,686,178 | 205,193,325 |
| nsv3125747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 205,550,901 | 206,058,049 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14143142 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14143142 | Remapped | Perfect | NC_000002.12:g.(?_ 204686178)_(205193 325_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,686,178 | 205,193,325 |
| nssv14143142 | Submitted genomic | NC_000002.11:g.(?_ 205550901)_(206058 049_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 205,550,901 | 206,058,049 |